ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031588
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1408778
ClinVar RCV Id:
RCV001909586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly727Val
CA382538838
NM_000051.4:c.2180G>T